Protein level identifier (NP_001243371):
p.Thr72Argfs*62
cDNA level identifier (NM_001256442):
c.215_216delCA
Gene level identifier:
g.1414_1415delCA
Reference, alternative allele:
CCA, C
Genomic location hg(19)
16:29824587 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).